Variant report

Variant	nsv1024514
Chromosome Location	chr7:57209598-57261358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:1102)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:57226466-57226562	K562	blood:	n/a	n/a
2	ATF1	chr7:57226381-57226494	K562	blood:	n/a	n/a
3	BATF	chr7:57254005-57254200	GM12878	blood:	n/a	n/a
4	BATF	chr7:57253983-57254242	GM12878	blood:	n/a	n/a
5	BCL11A	chr7:57253993-57254172	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:57254013-57254149	GM12878	blood:	n/a	n/a
7	BHLHE40	chr7:57255135-57255352	HepG2	liver:	n/a	n/a
8	BHLHE40	chr7:57253991-57254170	HepG2	liver:	n/a	n/a
9	CBX3	chr7:57233156-57233373	K562	blood:	n/a	n/a
10	CCNT2	chr7:57218095-57218295	K562	blood:	n/a	n/a
11	CEBPB	chr7:57209323-57209644	HepG2	liver:	n/a	n/a
12	CEBPB	chr7:57241524-57241724	HepG2	liver:	n/a	n/a
13	CTCF	chr7:57254061-57254115	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr7:57242263-57242355	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr7:57254039-57254107	HepG2	liver:	n/a	n/a
16	CTCF	chr7:57254080-57254115	GM19240	blood:	n/a	n/a
17	CTCF	chr7:57212574-57212622	Medullo	brain:	n/a	n/a
18	CTCF	chr7:57224676-57224770	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:57254111-57254116	GM19239	blood:	n/a	n/a
20	FOS	chr7:57242842-57242909	MCF10A-Er-Src	breast:	n/a	chr7:57242850-57242857 chr7:57242850-57242859
21	FOSL2	chr7:57253967-57254193	HepG2	liver:	n/a	n/a
22	FOSL2	chr7:57253997-57254167	HepG2	liver:	n/a	n/a
23	GABPA	chr7:57253943-57254159	Hela-S3	cervix:	n/a	n/a
24	GABPA	chr7:57254032-57254131	Hela-S3	cervix:	n/a	n/a
25	HEY1	chr7:57254022-57254135	HepG2	liver:	n/a	n/a
26	HEY1	chr7:57253989-57254171	HepG2	liver:	n/a	n/a
27	IRF3	chr7:57238121-57238146	GM12878	blood:	n/a	n/a
28	JUN	chr7:57227986-57228132	K562	blood:	n/a	n/a
29	JUND	chr7:57242702-57242918	HepG2	liver:	n/a	chr7:57242850-57242857 chr7:57242848-57242859 chr7:57242850-57242859
30	JUND	chr7:57244977-57245279	HepG2	liver:	n/a	n/a
31	KAP1	chr7:57232786-57233594	K562	blood:	n/a	chr7:57232795-57232803
32	KAP1	chr7:57232792-57233536	HEK293	kidney:	n/a	chr7:57232795-57232803
33	MAFK	chr7:57255428-57255629	HepG2	liver:	n/a	n/a
34	MYC	chr7:57254080-57254116	HUVEC	blood vessel:	n/a	n/a
35	MYC	chr7:57254079-57254117	HepG2	liver:	n/a	n/a
36	PBX3	chr7:57254029-57254131	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:57214884-57214912	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr7:57253986-57254210	Gliobla	brain:	n/a	n/a
39	POLR2A	chr7:57217823-57217955	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:57230768-57230865	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr7:57253999-57254213	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:57230077-57230209	A549	lung:	n/a	n/a
43	POLR2A	chr7:57259453-57259499	Gliobla	brain:	n/a	n/a
44	POLR2A	chr7:57216622-57216628	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:57244892-57244996	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:57223852-57224011	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr7:57212381-57212473	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr7:57254079-57254115	K562	blood:	n/a	n/a
49	POLR2A	chr7:57253997-57254145	H1-hESC	embryonic stem cell:	n/a	n/a
50	RXRA	chr7:57253978-57254157	HepG2	liver:	n/a	n/a

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57247176-57247226	Jurkat	blood:	n/a
2	chr7:57247707-57247757	PrEC	prostate:	n/a
3	chr7:57247748-57247798	HepG2	liver:	n/a
4	chr7:57218214-57218264	HIPEpiC	eye:	n/a
5	chr7:57247176-57247226	Jurkat	blood:	n/a
6	chr7:57247707-57247757	PrEC	prostate:	n/a
7	chr7:57247748-57247798	HepG2	liver:	n/a
8	chr7:57218214-57218264	HIPEpiC	eye:	n/a
9	chr7:57248804-57248854	GM06990	blood:	n/a
10	chr7:57252146-57252196	ovcar-3	ovarian:	n/a
11	chr7:57247707-57247757	GM12891	blood:	n/a
12	chr7:57218214-57218264	HRPEpiC	eye:	n/a
13	chr7:57247873-57247923	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:57247957-57248007	HRE	kidney:	n/a
15	chr7:57247891-57247941	NHBE	bronchial:	n/a
16	chr7:57247891-57247941	SK-N-SH_RA	brain:	n/a
17	chr7:57248455-57248505	GM12892	blood:	n/a
18	chr7:57247619-57247669	SK-N-SH	brain:	n/a
19	chr7:57247912-57247962	GM12891	blood:	n/a
20	chr7:57246097-57246147	Caco-2	colon:	n/a
21	chr7:57247619-57247669	GM12892	blood:	n/a
22	chr7:57247891-57247941	NH-A	brain:	n/a
23	chr7:57246097-57246147	Jurkat	blood:	n/a
24	chr7:57247707-57247757	AG04450	lung:	fetal
25	chr7:57218214-57218264	HAEpiC	amniotic membrane:	n/a
26	chr7:57247871-57247921	HCF	heart:	n/a
27	chr7:57247707-57247757	NHBE	bronchial:	n/a
28	chr7:57247891-57247941	Hela-S3	cervix:	n/a
29	chr7:57218214-57218264	LNCaP	prostate:	n/a
30	chr7:57252146-57252196	NH-A	brain:	n/a
31	chr7:57245575-57245625	HRPEpiC	eye:	n/a
32	chr7:57247748-57247798	PrEC	prostate:	n/a
33	chr7:57249065-57249115	HepG2	liver:	n/a
34	chr7:57247912-57247962	GM12892	blood:	n/a
35	chr7:57247871-57247921	HRCEpiC	kidney:	n/a
36	chr7:57247619-57247669	SK-N-SH_RA	brain:	n/a
37	chr7:57247619-57247669	Jurkat	blood:	n/a
38	chr7:57247619-57247669	AG04450	lung:	fetal
39	chr7:57247176-57247226	HIPEpiC	eye:	n/a
40	chr7:57247707-57247757	HRCEpiC	kidney:	n/a
41	chr7:57247873-57247923	HCT-116	colon:	n/a
42	chr7:57248804-57248854	NB4	blood:	n/a
43	chr7:57247871-57247921	RPTEC	kidney:	n/a
44	chr7:57247707-57247757	Jurkat	blood:	n/a
45	chr7:57247748-57247798	NHDF-neo	bronchial:	n/a
46	chr7:57248455-57248505	CMK	blood:	n/a
47	chr7:57248804-57248854	AG09319	gingival:	n/a
48	chr7:57249065-57249115	HCPEpiC	choroid plexus:	n/a
49	chr7:57249065-57249115	RPTEC	kidney:	n/a
50	chr7:57249065-57249115	SKMC	muscle:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-22	chr7:57221319-57221466	NONHSAT120808
2	lnc-ZNF716-22	chr7:57216056-57216137	NONHSAT120810
3	lnc-ZNF716-22	chr7:57221319-57221466	NONHSAT120809

No data

Variant related genes	Relation type
GUSBP10	TF binding region
ENSG00000235095	TF binding region
ENSG00000231537	TF binding region
MTND1P4	TF binding region
ZNF479	TF binding region
ENSG00000224880	TF binding region
ENSG00000228851	TF binding region
ENSG00000236692	TF binding region
ENSG00000234671	TF binding region
MTND5P7	TF binding region
MTND5P6	TF binding region
MTND2P6	TF binding region
MTND4P5	TF binding region
MTND4P4	TF binding region
GUSBP10	CpG island
ENSG00000235095	CpG island
ENSG00000231537	CpG island
MTND1P4	CpG island
ZNF479	CpG island
ENSG00000224880	CpG island
ENSG00000228851	CpG island
ENSG00000236692	CpG island
ENSG00000234671	CpG island
MTND5P7	CpG island
MTND5P6	CpG island
MTND2P6	CpG island
MTND4P5	CpG island
MTND4P4	CpG island

Extended variants
information (count: 1087 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1087 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545633124	chr7:57209615-57209616	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142160789	chr7:57209620-57209621	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs3885714	chr7:57209697-57209698	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs3885713	chr7:57209745-57209746	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534747593	chr7:57209787-57209788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150525148	chr7:57209798-57209799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs113847497	chr7:57209805-57209806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541697769	chr7:57209807-57209808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544758013	chr7:57209908-57209909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563249838	chr7:57209917-57209918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575161415	chr7:57209934-57209935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542536043	chr7:57209943-57209944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562149272	chr7:57209950-57209951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149705192	chr7:57209967-57209968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs74197349	chr7:57210001-57210002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373141795	chr7:57210021-57210022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116139208	chr7:57210054-57210055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533578817	chr7:57210057-57210058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs551972292	chr7:57210058-57210059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530776393	chr7:57210090-57210091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377287866	chr7:57210117-57210118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570386030	chr7:57210121-57210122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs202027421	chr7:57210128-57210129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs35000271	chr7:57210130-57210131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs397714948	chr7:57210131-57210132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs397818543	chr7:57210132-57210133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537774411	chr7:57210136-57210137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145454994	chr7:57210167-57210168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs148411208	chr7:57210168-57210169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs182215427	chr7:57210195-57210196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs561349995	chr7:57211779-57211780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541817724	chr7:57211791-57211792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs145144608	chr7:57211800-57211801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs540571185	chr7:57211823-57211824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs565193044	chr7:57211826-57211827	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs139020639	chr7:57211862-57211863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550129152	chr7:57211917-57211918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs562626692	chr7:57211918-57211919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs529783085	chr7:57211920-57211921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs78150375	chr7:57211938-57211939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs12673700	chr7:57212392-57212393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs12666537	chr7:57212394-57212395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368467395	chr7:57212400-57212401	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs144220845	chr7:57212408-57212409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148018563	chr7:57212411-57212412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs386410246	chr7:57212418-57212419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs71053220	chr7:57212421-57212422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201887569	chr7:57212422-57212423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs200121850	chr7:57212425-57212426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs201071319	chr7:57212438-57212439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57207000-57210200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:57217200-57217400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:57228800-57239000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:57229000-57229800	Active TSS	Fetal Heart	heart
5	chr7:57229000-57230000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr7:57229400-57229800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr7:57231200-57236000	ZNF genes & repeats	Liver	Liver
8	chr7:57231400-57232200	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr7:57232000-57233800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr7:57232000-57234200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:57234200-57238200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr7:57237800-57239800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:57239200-57239600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr7:57241800-57243800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr7:57242600-57243800	ZNF genes & repeats	Brain Substantia Nigra	brain
16	chr7:57242800-57243600	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr7:57244200-57250800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:57244600-57246800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr7:57244600-57250800	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr7:57244800-57245200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr7:57245000-57245200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:57247400-57248200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr7:57249600-57250400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr7:57249800-57250800	ZNF genes & repeats	Pancreas	Pancrea
25	chr7:57254000-57254800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr7:57254400-57254600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links